Varaico: Literature-Extracted Genetic Variants

Gene:CLDN4
Variant:p.E48K

CLDN4

50 papers

RefSeq Summary

The protein encoded by this intronless gene belongs to the claudin family. Claudins are integral membrane proteins that are components of the epithelial cell tight junctions, which regulate movement o...

Pfam Domains

PMP22_Claudinaa 4–181UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 4

HGNC Previous Symbols

CPETR; CPETR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001305.5
p.E48K
c.142G>A
Surrounding Variants
1 paper
NM_001305.5
p.T45delFs
c.133delA
1 paper
NM_001305.5
p.I40T
c.119T>C
1 paper
NM_001305.5
p.Q57E
c.169C>G
1 paper
NM_001305.5
p.G60D
c.179G>A
2 papers
NM_001305.5
p.R31C
c.91C>T
1 paper
NM_001305.5
p.A20A
c.60C>T
1 paper
NM_001305.5
p.V84I
c.250G>A
1 paper
NM_001305.5
p.I11I
c.33C>T
1 paper
NM_001305.5
p.I86delFs
c.257delT
1 paper
NM_001305.5
p.S3insFs
c.7dupT
1 paper
NM_001305.5
p.M1T
c.2T>C
1 paper
NM_001305.5
p.N142I
c.425A>T
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